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In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.
The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin (show TUBB Proteins) post-translational modification in the pathogenesis of human ciliary dysfunction.
Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein.
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15\; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants.
centrosomal protein of 41 kDa
, testis specific gene A14
, testis-specific gene A14 protein
, testis specific, 14
, centrosomal protein 41 kDa
, testis specific protein A14
, centrosomal protein of 41 kDa A
, ribosomal protein L37a